{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:24:51Z","timestamp":1760783091471,"version":"build-2065373602"},"reference-count":46,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,9]]},"abstract":"<jats:p>This report is the third part of a trilogy from a multidisciplinary study which was undertaken to investigate gene and protein expression in a large cohort of patients with well defined and diverse clinical phenotypes. The aim of part 3 was to review which of the analytical techniques that we had used would be the most useful for differential diagnosis, and which would provide the most accurate indication of disease severity. Careful clinical appraisal is very important and every DMD patient was correctly diagnosed on this basis. In contrast, half of the sporadic BMD patients and all of the sporadic female patients had received different tentative diagnoses based on clinical assessments alone. Sequential observations of quantitative parameters (such as the time taken to run a fixed distance) were found to be useful clinical indicators for prognosis. Intellectual problems might modify the impression of physical ability in patients presenting at a young age. Histopathological assessment was accurate for DMD but differentiation between BMD and other disorders was more difficult, as was the identification of manifesting carriers. Our data on a small number of women with symptoms of muscle disease indicate that abnormal patterns of dystrophin labelling on sections may be an effective way of differentiating between female patients with a form of limb girdle dystrophy and those carrying a defective Xp21 gene. Dystrophin gene analysis detects deletions\/duplications in 50 to 90% of male patients and is the most effective non-invasive technique for diagnosis. Quantitative Western blotting, however, would differentiate between all Xp21 and non-Xp21 male patients. In this study we found a clear relationship between increased dystrophin abundance (determined by densitometric analysis of blots) and clinical condition, with a correlation between dystrophin abundance and the age at loss of independent mobility among boys with DMD and intermediate D\/BMD. This indicates that blotting is the most sensitive and accurate technique for diagnosis and prognosis.<\/jats:p>","DOI":"10.1136\/jmg.30.9.745","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"745-751","source":"Crossref","is-referenced-by-count":30,"title":["Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis."],"prefix":"10.1136","volume":"30","author":[{"given":"L V","family":"Nicholson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K M","family":"Bushby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Gardner-Medwin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Curtis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I B","family":"Ginjaar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J T","family":"den Dunnen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J L","family":"Welch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T J","family":"Butler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Bakker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,9,1]]},"reference":[{"key":"ref_1","first-page":"131","article-title":"Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus dystrophin gfeonresicnhitzhoepbhrraeinni?a]aMt eXdp2Ge1noert an effect of the","volume":"30","author":"Zatz, M.; Vallada, H.; Melo, M.S.","year":"1993","unstructured":"Zatz M, Vallada H, Melo MS, et al. Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus dystrophin gfeonresicnhitzhoepbhrraeinni?a]aMt eXdp2Ge1noert an effect of the 1993;30:131-4."},{"key":"ref_2","first-page":"190","article-title":"Serum creatinekinase (CK) and pyruvate kinase (PK) activities in mDuuscchuelnanredy(stDrMoDph)y.a]s compared","volume":"102","author":"Zatz, M.; Rapaport, D.; Vainzof, M.","year":"1991","unstructured":"Zatz M, Rapaport D, Vainzof M, et al. Serum creatinekinase (CK) and pyruvate kinase (PK) activities in mDuuscchuelnanredy(stDrMoDph)y.a]s compared Neurol Sci with Becker (BMD) 1991;102:190-6.","journal-title":"Neurol Sci with Becker (BMD)"},{"key":"ref_3","article-title":"Duchenne muscular dystrophy. Revised edition","author":"Emery, A.E.H.","year":"1988","unstructured":"Emery AEH. Duchenne muscular dystrophy. Revised edition. Oxford: Oxford University Press, 1988."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1159\/000153861","article-title":"Estimates of conditional heterozygosity risks for young females in Duchenne muscular dystrophy","volume":"39","author":"Passos-Bueno, M.R.; Otto, P.A.; Zatz, M.","year":"1989","unstructured":"Passos-Bueno MR, Otto PA, Zatz M. Estimates of conditional heterozygosity risks for young females in Duchenne muscular dystrophy. Hum Hered 1989;39:202-11.","journal-title":"Hum Hered"},{"key":"ref_5","first-page":"289","article-title":"The muscular dystrophies. In: Muscle biopsy - a practical approach","author":"Dubowitz, V.","year":"1985","unstructured":"Dubowitz V. The muscular dystrophies. In: Muscle biopsy - a practical approach. London: Bailliere Tindall, 1985:289-404."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1002\/mus.880141105","article-title":"Muscle histology in Becker muscular dystrophy","volume":"14","author":"Kaido, M.; Arahata, K.; Hoffman, E.P.; Nonaka, I.; Sugita, H.","year":"1991","unstructured":"Kaido M, Arahata K, Hoffman EP, Nonaka I, Sugita H. Muscle histology in Becker muscular dystrophy. Muscle Nerve 1991;14:1067-73.","journal-title":"Muscle Nerve"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1016\/0140-6736(91)92671-N","article-title":"Prevalence and incidence of Becker muscular dystrophy","volume":"337","author":"Bushby, K.M.D.; Thambyayah, M.; Gardner-Medwin, D.","year":"1991","unstructured":"Bushby KMD, Thambyayah M, Gardner-Medwin D. Prevalence and incidence of Becker muscular dystrophy. Lancet 1991;337:1022-4.","journal-title":"Lancet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2609","DOI":"10.1001\/jama.1992.03480190051030","article-title":"Diagnosis of Duchenne and tBieocnk.e]r muscular dystrophies by polymerase","volume":"267","author":"Group, Multicenter Study","year":"1992","unstructured":"Multicenter Study Group. Diagnosis of Duchenne and tBieocnk.e]r muscular dystrophies by polymerase Am Med Assoc 1992;267:2609-15. chain reac-","journal-title":"Am Med Assoc"},{"key":"ref_9","first-page":"54","article-title":"Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies","volume":"49","author":"Beggs, A.H.; Hoffman, E.P.; Snyder, JR","year":"1991","unstructured":"Beggs AH, Hoffman EP, Snyder JR, et al. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am 7 Hum Genet 1991;49:54-67.","journal-title":"Am 7 Hum Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/0887-8994(92)90004-I","article-title":"Prediction of dystrophin phenotype by DNA analysis in Duchenne\/Becker muscular dystrophy","volume":"8","author":"Specht, L.A.; Beggs, A.H.; Korf, B.; Kunkel, L.M.; Shapiro, F.","year":"1992","unstructured":"Specht LA, Beggs AH, Korf B, Kunkel LM, Shapiro F. Prediction of dystrophin phenotype by DNA analysis in Duchenne\/Becker muscular dystrophy. Pediatr Neurol 1992;8:432-6.","journal-title":"Pediatr Neurol"},{"issue":"304-1","key":"ref_11","first-page":"1","article-title":"A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods","volume":"28","author":"Abbs, S.; Yau, S.C.; Clark, S.; Mathew, C.G.; Bobrow, M.","year":"1991","unstructured":"Abbs S, Yau SC, Clark S, Mathew CG, Bobrow M. A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods. 7 Med Genet 1991;28:304-1 1.","journal-title":"7 Med Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1136\/jmg.26.11.682","article-title":"Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy","volume":"26","author":"Hodgson, S.; Hart, K.; Abbs, S.","year":"1989","unstructured":"Hodgson S, Hart K, Abbs S, et al. Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. J Med Genet 1989;26:682-93.","journal-title":"J Med Genet"},{"key":"ref_13","first-page":"214","article-title":"Molecular deletion patterns in Duchenne muscular dystrophy patients","volume":"32","author":"Lucotte, G.; David, F.; Levy, C.","year":"1989","unstructured":"Lucotte G, David F, Levy C. Molecular deletion patterns in Duchenne muscular dystrophy patients. Ann Genet (Paris) 1989;32:214-19. Upadhyaya M, Harper PS.","journal-title":"Ann Genet (Paris)"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1002\/ajmg.1320390414","article-title":"Apparent association of mental retardation and specific patterns of deletions screened with probes Duchenne muscular dystrophy","volume":"39","author":"Rapaport, D.; Passos-Bueno, M.R.; Brandao, L.","year":"1991","unstructured":"Rapaport D, Passos-Bueno MR, Brandao L, et al. Apparent association of mental retardation and specific patterns of deletions screened with probes Duchenne muscular dystrophy. Cf56a Am and Cf23a in ] Med Genet 1991;39:437-41.","journal-title":"Cf56a Am and Cf23a in; Med Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1055\/s-2008-1071434","article-title":"Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and Westemn blot","volume":"22","author":"Voit, T.; Stuettgen, P.; Cremer, M.; Goebel, H.H.","year":"1991","unstructured":"Voit T, Stuettgen P, Cremer M, Goebel HH. Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and Westemn blot. Neuropediatrics 1991;22:152-62.","journal-title":"Neuropediatrics"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1111\/j.1399-0004.1992.tb03133.x","article-title":"Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier","volume":"42","author":"Muntoni, F.; Mateddu, A.; Marrosu, M.G.","year":"1992","unstructured":"Muntoni F, Mateddu A, Marrosu MG, et al. Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier. Clin Genet 1992;42:35-8.","journal-title":"Clin Genet"},{"issue":"1","key":"ref_17","first-page":"1417","article-title":"Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the aminoterminal region of the protein","volume":"1","author":"Vainzof, M.; Zubrzycka-Gaarn, E.E.; Rapaport, D.","year":"1991","unstructured":"Vainzof M, Zubrzycka-Gaarn EE, Rapaport D, et al. Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the aminoterminal region of the protein. J Neurol Sci 1991 I1O1: 1417.","journal-title":"J Neurol Sci"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/0022-510X(91)90039-A","article-title":"Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy","volume":"101","author":"Arahata, K.; Beggs, A.H.; Honda, H.","year":"1991","unstructured":"Arahata K, Beggs AH, Honda H, et al. Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy. J Neurol Sci 1991;101:148-56.","journal-title":"J Neurol Sci"},{"key":"ref_19","first-page":"295","article-title":"Differentiation of Duchenne and Becker muscular dystrophy phenotypes with aminoand carboxy-terminal antisera specific for dystrophin","volume":"48","author":"Bulman, D.E.; Murphy, E.G.; Zubrzycka-Gaarn, E.E.; Worton, R.G.; Ray, P.N.","year":"1991","unstructured":"Bulman DE, Murphy EG, Zubrzycka-Gaarn EE, Worton RG, Ray PN. Differentiation of Duchenne and Becker muscular dystrophy phenotypes with aminoand carboxy-terminal antisera specific for dystrophin. AmJ Hum Genet 1991;48:295-304.","journal-title":"AmJ Hum Genet"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1111\/j.1600-0404.1992.tb08046.x","article-title":"Dystrophin or a 'related protein' in Duchenne muscular dystrophy?","volume":"86","author":"Nicholson, L.V.B.; Johnson, M.A.; Davison, K.","year":"1992","unstructured":"Nicholson LVB, Johnson MA, Davison K, et al. Dystrophin or a 'related protein' in Duchenne muscular dystrophy? Acta Neurol Scand 1992;86:8-14.","journal-title":"Acta Neurol Scand"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/0300-9084(92)90156-9","article-title":"In vitro digestion of dystrophin by calcium-dependent proteases, calpains I and II","volume":"74","author":"Cottin, P.; Poussard, S.; Mornet, D.","year":"1992","unstructured":"Cottin P, Poussard S, Mornet D, et al. In vitro digestion of dystrophin by calcium-dependent proteases, calpains I and II. Biochimie 1992;74:565-70.","journal-title":"Biochimie"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1038\/343180a0","article-title":"Very mild muscular dystrophy associated with the deletion of 46% of dystrophin","volume":"343","author":"England, S.; Nicholson, L.V.B.; Johnson, M.A.","year":"1990","unstructured":"England S, Nicholson LVB, Johnson MA, et al. Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature 1990;343:180-2.","journal-title":"Nature"},{"key":"ref_23","first-page":"950","article-title":"Somatic reversion\/supression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibres","volume":"50","author":"Klein, C.J.; Coovert, D.D.; Bulman, D.E.","year":"1992","unstructured":"Klein CJ, Coovert DD, Bulman DE, et al. Somatic reversion\/supression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibres. Am J Hum Genet 1992;50:950-9.","journal-title":"Am J Hum Genet"},{"key":"ref_24","first-page":"4405","article-title":"Normal and dystrophin-deficient fibres in carriers of the gene for Duchenne muscular dystrophy","volume":"133","author":"Bonilla, E.; Schmidt, B.; Samitt, C.E.","year":"1988","unstructured":"Bonilla E, Schmidt B, Samitt CE, et al. Normal and dystrophin-deficient fibres in carriers of the gene for Duchenne muscular dystrophy. Am J Pathol 1988;133:4405.","journal-title":"Am J Pathol"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1056\/NEJM198901193200302","article-title":"Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy","volume":"320","author":"Arahata, K.; Ishihara, T.; Kamakura, K.","year":"1989","unstructured":"Arahata K, Ishihara T, Kamakura K, et al. Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy. N Engl 7 Med 1989;320:138-42.","journal-title":"N Engl 7 Med"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/0022-510X(91)90069-J","article-title":"Characterisation of dystrophin in carriers of Duchenne muscular dystrophy","volume":"102","author":"Clerk, A.; Rodillo, E.; Heckmatt, J.","year":"1991","unstructured":"Clerk A, Rodillo E, Heckmatt J, et al. Characterisation of dystrophin in carriers of Duchenne muscular dystrophy. J Neurol Sci 1991;102:197-205.","journal-title":"J Neurol Sci"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/0960-8966(91)90022-K","article-title":"Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne's and Becker muscular dystrophies of different ages","volume":"1","author":"Vainzof, M.; Pavanello, R.C.M.; Pavanello, I.","year":"1991","unstructured":"Vainzof M, Pavanello RCM, Pavanello I, et al. Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne's and Becker muscular dystrophies of different ages. Neuromusc Dis 1991;1:177-83.","journal-title":"Neuromusc Dis"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1136\/jmg.29.8.578","article-title":"Investigation of a female manifesting Becker muscular dystrophy","volume":"29","author":"Glass, I.A.; Nicholson, L.V.B.; Watkiss, E.","year":"1992","unstructured":"Glass IA, Nicholson LVB, Watkiss E, et al. Investigation of a female manifesting Becker muscular dystrophy. 7 Med Genet 1992;29:578-82.","journal-title":"7 Med Genet"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1002\/ana.410280512","article-title":"Dystrophin analysis in Duchenne and Becker muscular dystrophy carriers: correlation with intracellular calcium and albumin","volume":"28","author":"Morandi, L.; Mora, M.; Gussoni, E.; Tedeschi, S.; Cornelio, F.","year":"1990","unstructured":"Morandi L, Mora M, Gussoni E, Tedeschi S, Cornelio F. Dystrophin analysis in Duchenne and Becker muscular dystrophy carriers: correlation with intracellular calcium and albumin. Ann Neurol 1990;28:674-9.","journal-title":"Ann Neurol"},{"issue":"1","key":"ref_30","first-page":"12","article-title":"Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy","volume":"151","author":"Voit, T.; Neuen-Jacob, E.; Mahler, V.; Jauch, A.; Cremer, M.","year":"1992","unstructured":"Voit T, Neuen-Jacob E, Mahler V, Jauch A, Cremer M. Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy. Eur J Pediatr 1992;151:1 12-16.","journal-title":"Eur J Pediatr"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/0960-8966(92)90026-3","article-title":"Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostaining","volume":"2","author":"Chevron, M.P.; Tuffery, S.; Echenne, B.; Demaille, J.; Claustres, M.","year":"1992","unstructured":"Chevron MP, Tuffery S, Echenne B, Demaille J, Claustres M. Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostaining. Neuromusc Dis 1992;2:47-50.","journal-title":"Neuromusc Dis"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1002\/ana.410300414","article-title":"Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy","volume":"30","author":"Hoffman, E.P.; Garcia, C.A.; Chamberlain, J.S.","year":"1991","unstructured":"Hoffman EP, Garcia CA, Chamberlain JS, et al. Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy. Ann Neurol 1991;30:605-10.","journal-title":"Ann Neurol"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/0960-8966(92)90025-2","article-title":"Prevalence of dystrophin-positive fibers in 85 Duchenne muscular dystrophy patients","volume":"2","author":"Fanin, M.; Danieli, G.A.; Vitiello, L.; Senter, L.; Angelini, C.","year":"1992","unstructured":"Fanin M, Danieli GA, Vitiello L, Senter L, Angelini C. Prevalence of dystrophin-positive fibers in 85 Duchenne muscular dystrophy patients. Neuromusc Dis 1992;2:41-5.","journal-title":"Neuromusc Dis"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1002\/ajmg.1320430619","article-title":"X inactivation and dystrophin studies in a t(X; 12) female","volume":"43","author":"Wenger, S.L.; Steele, M.W.; Hoffman, E.P.; Barmada, M.A.; Wessel, H.B.","year":"1992","unstructured":"Wenger SL, Steele MW, Hoffman EP, Barmada MA, Wessel HB. X inactivation and dystrophin studies in a t(X;12) female. Am J Med Genet 1992;43:1012-15.","journal-title":"Am J Med Genet"},{"key":"ref_35","article-title":"Sarcolemmal distribution of abnormal dystrophin in Xp2l carriers","author":"Vainzof, M.; Nicholson, L.V.B.; Bulman, D.E.","unstructured":"Vainzof M, Nicholson LVB, Bulman DE, et al. Sarcolemmal distribution of abnormal dystrophin in Xp2l carriers. Neuromusc Dis (in press).","journal-title":"Neuromusc Dis"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1055\/s-2008-1071521","article-title":"Dystrophin expression in Duchenne patients with 'in frame' gene deletions","volume":"24","author":"Nicholson, L.V.B.; Bushby, K.M.D.; Johnson, M.A.; GardnerMedwin, D.; Ginjaar, H.B.","year":"1993","unstructured":"Nicholson LVB, Bushby KMD, Johnson MA, GardnerMedwin D, Ginjaar HB. Dystrophin expression in Duchenne patients with 'in frame' gene deletions. Neuropediatrics 1993;24:93-7.","journal-title":"Neuropediatrics"},{"key":"ref_37","article-title":"Is the maintenance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?","author":"Vainzof, M.; Takata, R.I.; Passos-Bueno, M.R.; Pavanello, R.C.M.; Zatz, M.","unstructured":"Vainzof M, Takata RI, Passos-Bueno MR, Pavanello RCM, Zatz M. Is the maintenance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype? Hum Med Genet (in press).","journal-title":"Hum Med Genet"},{"key":"ref_38","article-title":"Large 'in frame' deletions in DMD resulting in sarcolemmal expression of dystrophin C-terminus but reduced expression of 6qdystrophin-related protein","author":"Bittner, R.E.; Shorny, S.; Fer!ings, R.","unstructured":"Bittner RE, Shorny S, Fer!ings R, et al. Large 'in frame' deletions in DMD resulting in sarcolemmal expression of dystrophin C-terminus but reduced expression of 6qdystrophin-related protein. Neuromusc Dis (in press).","journal-title":"Neuromusc Dis"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/0022-510X(91)90122-N","article-title":"Immunocytochemical analysis of dystrophin in congenital muscular dystrophy","volume":"105","author":"Arikawa, E.; Ishihara, T.; Nonaka, I.; Sugita, H.; Arahata, K.","year":"1991","unstructured":"Arikawa E, Ishihara T, Nonaka I, Sugita H, Arahata K. Immunocytochemical analysis of dystrophin in congenital muscular dystrophy. J Neurol Sci 1991;105:79-87.","journal-title":"J Neurol Sci"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/0960-8966(91)90119-D","article-title":"Dystrophin abnormalities in polymyositis and dermatomysitis","volume":"1","author":"Sewry, C.A.; Clerk, A.; Heckmatt, J.","year":"1991","unstructured":"Sewry CA, Clerk A, Heckmatt J, et al. Dystrophin abnormalities in polymyositis and dermatomysitis. Neuromusc Dis 1991;1:333-9.","journal-title":"Neuromusc Dis"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1073\/pnas.89.2.623","article-title":"Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy","volume":"89","author":"Beggs, A.H.; Neumann, P.E.; Arahata, K.","year":"1992","unstructured":"Beggs AH, Neumann PE, Arahata K, et al. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. Proc Natl Acad Sci USA 1992;89:623-7.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1212\/WNL.39.10.1277","article-title":"Familial X-linked myalgia and cramps: a non-progressive myopathy associated with a deletion in the dystrophin gene","volume":"39","author":"Gospe, S.M.; Lazaro, R.P.; Lava, N.S.","year":"1989","unstructured":"Gospe SM, Lazaro RP, Lava NS, et al. Familial X-linked myalgia and cramps: a non-progressive myopathy associated with a deletion in the dystrophin gene. Neurology 1989;39: 1277-80.","journal-title":"Neurology"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1002\/ana.410270521","article-title":"An unusual variant of Becker muscular dystrophy","volume":"27","author":"de Visser M; E, Bakker; JC, Defesche; PA, Bolhuis; van Ommen GJB","year":"1990","unstructured":"de Visser M, Bakker E, Defesche JC, Bolhuis PA, van Ommen GJB. An unusual variant of Becker muscular dystrophy. Ann Neurol 1990;27:578-81.","journal-title":"Ann Neurol"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/0960-8966(91)90024-M","article-title":"Becker muscular dystrophy or spinal muscular atrophy? Dystrophin studies resolve conflicting results of electromyography and muscle biopsy","volume":"1","author":"McDonald, T.D.; Medori, R.; Younger, D.S.","year":"1991","unstructured":"McDonald TD, Medori R, Younger DS, et al. Becker muscular dystrophy or spinal muscular atrophy? Dystrophin studies resolve conflicting results of electromyography and muscle biopsy. Neuromusc Dis 1991;1:195-200.","journal-title":"Neuromusc Dis"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1002\/mus.880150214","article-title":"Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis","volume":"15","author":"Gold, R.; Kress, W.; Meurers, B.","year":"1992","unstructured":"Gold R, Kress W, Meurers B, et al. Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis. Muscle Nerve 1992;15:214-18.","journal-title":"Muscle Nerve"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0022-3476(05)82437-0","article-title":"Molecular genetics of Duchenne and Becker muscular dystrophy","volume":"117","author":"Darras, B.T.","year":"1990","unstructured":"Darras BT. Molecular genetics of Duchenne and Becker muscular dystrophy. J Pediatr 1990;117:1-15.","journal-title":"J Pediatr"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.9.745","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:57:43Z","timestamp":1759687063000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.9.745"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,9]]},"references-count":46,"journal-issue":{"issue":"9","published-online":{"date-parts":[[1993,9,1]]},"published-print":{"date-parts":[[1993,9]]}},"alternative-id":["10.1136\/jmg.30.9.745"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.9.745","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1993,9]]}}}